ABSTRACT
A 4-year-old girl presented with leukocoria, vision loss, and painless left eye redness. Posterior segment examination revealed a total retinal detachment and abnormal, tortuous retinal vessels in the left eye. No visible mass, vitreous seeding, or hemorrhage were observed. B-mode ultrasound showed a detached retina in a "cinnamon-roll" configuration. Due to poor visual prognosis and high clinical suspicion of malignancy, enucleation was performed. Further histopathological analysis confirmed the diagnosis of diffuse infiltrative retinoblastoma, with an atypical presentation.
Subject(s)
Retinal Detachment , Retinal Neoplasms , Retinoblastoma , Child, Preschool , Cinnamomum zeylanicum , Female , Humans , Retinal Detachment/diagnosis , Retinal Neoplasms/diagnosis , Retinoblastoma/diagnosis , UltrasonographyABSTRACT
The hallmarks of X-linked Agammaglobulinemia (XLA) are panhypogammaglobulinemia, absent B-cells, and recurrent sinopulmonary and gastrointestinal infections starting at an early age, as well as other infections like cellulitis, meningitis, arthritis and sepsis. A number of non-infectious complications have been reported in these patients, including autoimmune diseases and malignancy, especially lymphomas. Here, we report the case of a 30-year old man who developed gastric adenocarcinoma in the context of XLA. Previous reports of, and hypotheses addressing the development of cancer in patients with XLA, are also summarized. Solid cancer in XLA affects mainly the gastrointestinal tract and seems to be related to chronic infection. A natural evolution can be traced back from gastric adenocarcinoma to megaloblastic anemia due to achlorhydria in the context of chronic infection; periodic endoscopy thus seems justified to detect and treat carcinoma in early stages.
Subject(s)
Adenocarcinoma/complications , Agammaglobulinemia/complications , Genetic Diseases, X-Linked/complications , Stomach Neoplasms/complications , Adenocarcinoma/diagnosis , Agammaglobulinemia/diagnosis , Agammaglobulinemia/therapy , Biopsy , Consanguinity , DNA Mutational Analysis , Fatal Outcome , Genetic Diseases, X-Linked/diagnosis , Genetic Diseases, X-Linked/therapy , Humans , Infant , Male , Pedigree , Stomach Neoplasms/diagnosis , Tomography, X-Ray ComputedABSTRACT
BACKGROUND: Central neurocytomas (CNs) are infrequent intraventricular tumors with features of neuronal differentiation that affect young adults and have an excellent prognosis after total resection. The main differential intraoperative diagnoses are oligodendrogliomas, ependymomas and non-Hodgkin's lymphomas; therefore, an accurate and precise intraoperative diagnosis is essential, making the cytologic features the hallmark for cytopathologists, surgical pathologists and neurosurgeons alike. Seven previous reports have described 18 cases of CNs and have addressed the cytodiagnostic criteria during intraoperative assessment in the English medical literature. CASES: Three patients (23 years old/male, 29 years old/female and 28 years old/male) were evaluated during intraoperative assessment as CNs. They showed intraventricular tumors that measured 6.5, 3.5 and 6.6 cm, respectively. The cytologic features common in these cases were: (1) monotonous or isomorphic round cells, (2) small nuclei with stippled or granular chromatin, and (3) acellular fibrillary areas or neuropil (islands). Other cytologic features often encountered were: rosette-like structures, micronucleoli, perinuclear haloes, well-formed capillary-sized vessels and calcifications. CONCLUSION: Differential diagnosis of CNs can be a diagnostic challenge. The integration of radiologic imaging and touch preparations taking into account specific cytologic features and frozen sections is necessary for an optimal intraoperative assessment.
